Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
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Nephrol. Dial. Transplant. · Aug 2010
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which has been rarely reported. The present study not only investigated clinical features of child-onset FMF patients with compound heterozygous mutations but also determined whether there is a phenotype-genotype correlation in the same patient population. ⋯ We suggest that regular colchicine therapy may be administered to symptomatic patients with MEVF gene compound heterozygous mutations, regardless of the mutation type.
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Nephrol. Dial. Transplant. · Jul 2010
Comparative StudyDisproportionately high incidence of diabetes-related end-stage renal disease in the Canary Islands. An analysis based on estimated population at risk.
An exceptionally high incidence of diabetes-related end-stage renal disease (DM-ESRD) has been reported in the Canary Islands. This phenomenon was attributed to an increased prevalence of diabetes in this community. We compared the incidence of DM-ESRD in the Canary Islands with the rest of Spain among the estimated number of individuals at risk (people with diabetes in the population). ⋯ Individuals with diabetes in the Canary Islands present a disproportionately high incidence of ESRD. Diabetic Canary inhabitants are exposed to the disease for a longer time and therefore, may be more vulnerable to the development of chronic diabetes complications, including ESRD.
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Nephrol. Dial. Transplant. · Jul 2010
Incidence and outcomes of acute kidney injury in a referred chronic kidney disease cohort.
Whilst chronic kidney disease (CKD) has been identified as a risk factor for the development of acute kidney injury (AKI), little has been published about the incidence and outcomes of those acute injuries on chronic stable kidney disease and even less in a referred cohort of CKD patients followed up by nephrologists. ⋯ In a referred CKD population, AKI was a frequent event and associated with higher risks of dialysis and mortality. The incidence of AKI appears to be less with older age in this population. Quantification of AKI incidence and its risk factors in different populations is important for clinicians and planners, so that appropriate identification, prevention and treatment strategies can be tested.
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Nephrol. Dial. Transplant. · Jul 2010
Randomized Controlled Trial Multicenter StudyRandomized evaluation of efficacy and safety of ferric carboxymaltose in patients with iron deficiency anaemia and impaired renal function (REPAIR-IDA): rationale and study design.
Patients with iron deficiency anaemia (IDA) in the setting of non-dialysis-dependent chronic kidney disease (NDD-CKD) may benefit from treatment with intravenous (IV) iron. Ferric carboxymaltose (FCM) is a novel IV iron formulation designed to permit larger infusions compared to currently available IV standards such as Venofer(R) (iron sucrose). ⋯ REPAIR-IDA will assess the efficacy and safety of two 750-mg infusions of FCM compared to an FDA-approved IV iron regimen in patients with NDD-CKD at increased risk for cardiovascular disease.